Is Mitochondrial tRNA(phe) Variant m.593T>C a Synergistically Pathogenic Mutation in Chinese LHON Families with m.11778G>A?

Mitochondrial transfer RNA (mt-tRNA) mutations have been reported to be associated with a variety of diseases. In a previous paper that studied the mtDNA background effect on clinical expression of Leber's hereditary optic neuropathy (LHON) in 182 Chinese families with m.11778G>A, we found a...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Zhang, A-Mei, Bandelt, Hans-Jürgen, Jia, Xiaoyun, Zhang, Wen, Li, Shiqiang, Yu, Dandan, Wang, Dong, Zhuang, Xin-Ying, Zhang, Qingjiong, Yao, Yong-Gang
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Public Library of Science 2011
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC3198432/
https://ncbi.nlm.nih.gov/pubmed/22039503
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0026511
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